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Table 5 Compound heterozygous variants observed in exomes of seven ROHHAD cases (discovery cohort)

From: Rapid-Onset Obesity with Hypothalamic Dysfunction, Hypoventilation, and Autonomic Dysregulation (ROHHAD): exome sequencing of trios, monozygotic twins and tumours

Proband ID Gene Variant type Selected transcript and variant effect Inherited from Polyphen-2 [22] Prediction (Probability) CADD [21] Score (Phred-scaled MAF (1000 genomes Project; EVS; ExAC)a Total reads (% of reads supporting variant Allele)
18 MAST4 Non-synonymous MAST4:NM_001297651: Mother Deleterious (0.998) 21.4 Not found; Not found; 0.00004466 198 (40 %)
exon1:c.34C>T:p.L12F
Non-synonymous MAST4:NM_001297651: Father Deleterious (1.000) 20.9 Not found; Not found; 0.0002 92 (35 %)
exon26:c.4690C>T:p.L1564F
OTOG Non-synonymous OTOG:NM_001277269: Mother Deleterious (1.000) 20.1 Not found; Not found; Not found 31 (32 %)
exon47:c.7907G>A:p.R2636H
synonymous OTOG:NM_001277269: Father N/A 9.71 Not found; Not found; Not found 63 (48 %)
exon37:c.6381C>T:p.H2127H
25 DNAH11 synonymous DNAH11:NM_001277115: Father N/A 0.005 0.00159744; 0.0032; 0.003 177 (36 %)
exon16:c.3237T>C:p.L1079L
synonymous DNAH11:NM_001277115: Mother N/A 0.002 0.000199681; 0.0027; 0.0024 53 (49 %)
exon57:c.9468T>C:p.D3156D
DMXL2 Non-synonymous DMXL2:NM_001174117: Mother Neutral (0.029) 14.65 Not found; Not found; 0.0001 34 (32 %)
exon39:c.6727G>C:p.V2243L
synonymous DMXL2:NM_001174116: Father N/A 0.646 Not found; 0.0004; 0.0005 126 (44 %)
exon8:c.861C>T:p.T287T
27 SACS Non-synonymous SACS:NM_001278055: Mother Deleterious (0.999) 21.8 0.000798722; 0.0035; 0.0028 87 (40 %)
exon8:c.7898T>G:p.F2633C
Non-synonymous SACS:NM_001278055: Father Deleterious (0.996) 16.19 Not found; Not found; Not found 101 (45 %)
exon8:c.6009G>T:p.Q2003H
ZNF44 Non-synonymous ZNF44:NM_016264: Father Deleterious (1.000) 16.13 Not found; Not found; 0.0002 123 (45 %)
exon4:c.923C>T:p.P308L
frameshift deletion ZNF44:NM_016264: Mother N/A 23.3 Not found; Not found; 0.00008261 145 (43 %)
exon4:c.562_563del:p.M188fs
41 C15orf39 synonymous C15orf39:NM_015492: Father N/A 6.427 0.00139776; 0.0032; 0.0021 157 (38 %)
exon2:c.702C>T:p.Y234Y
nonframeshift deletion C15orf39:NM_015492:exon2: Mother N/A 33 Not found; 0.0026; 0.0001 56 (30 %)
c.2210_2221del:p.737_741del
CD300LF Non-synonymous CD300LF:NM_001289083: Mother Neutral (0.278) 0.265 Not found; Not found; 0.0000249 37 (43 %)
exon5:c.542T>C:p.I181T
Non-synonymous CD300LF:NM_001289083: Father Deleterious (0.746) 13.19 Not found; Not found; 0.000033 118 (43 %)
exon2:c.336A>C:p.K112N
ZFHX4 synonymous ZFHX4:NM_024721: Mother N/A 14.05 0.000199681; 0.0002; 0.000075 113 (36 %)
exon3:c.3075G>A:p.A1025A
Non-synonymous ZFHX4:NM_024721: Father Neutral (0.000) 1.699 Not found; Not found; Not found 171 (39 %)
exon10:c.7262C>T:p.P2421L
synonymous ZFHX4:NM_024721: Mother N/A 3.092 0.00179712; 0.0019; 0.0025 125 (39 %)
exon11:c.9960A>G:p.Q3320Q
42 DST Non-synonymous DST:NM_015548: Mother Deleterious (1.000) 15.35 Not found; Not found; Not found 197 (43 %)
exon42:c.8467T>C:p.C2823R
Non-synonymous DST:NM_015548: Father Neutral (0.144) 12.02 Not found; Not found; Not found 127 (39 %)
exon14:c.2124A>G:p.I708M
EYS Non-synonymous EYS:NM_001142800: Mother Deleterious (1.000) 14.25 Not found; Not found; Not found 183 (42 %)
exon40:c.7792G>A:p.G2598S
Non-synonymous EYS:NM_001142800: Father Neutral (0.031) 11.83 Not found; Not found; 0.000008239 189 (38 %)
exon4:c.455T>C:p.M152T
45 SPEG Non-synonymous SPEG:NM_005876: Mother Neutral (0.235) 15.47 Not found; Not found; Not found 25 (24 %)
exon17:c.4181A>G:p.D1394G
Non-synonymous SPEG:NM_005876: Father Neutral (0.244) 4.916 Not found; 0.0003; 0.0003 17 (59 %)
exon30:c.6854C>T:p.P2285L
57 ALS2CR11 Non-synonymous ALS2CR11:NM_001168221: Father Neutral (0.008) 6.899 Not found; Not found; Not found 30 (47 %)
exon15:c.4114G>A:p.D1372N
Non-synonymous ALS2CR11:NM_001168221: Mother Neutral (0.125) 16.49 0.000199681; Not found; Not found 40 (55 %)
exon15:c.2216A>G:p.K739R
SYNE1 Non-synonymous SYNE1:NM_033071: Mother Deleterious (0.982) 25.8 0.000199681; 0.0006; 0.0005 214 (40 %)
exon142:c.25607A>C:p.D8536A
Non-synonymous SYNE1:NM_033071: Father Deleterious (0.999) 34 Not found; 0.0002; 0.000008238 93 (51 %)
exon102:c.19015G>A:p.E6339K
  1. a1000 Genomes Project (http://www.1000genomes.org); EVS = Exome Variant Server (http://evs.gs.washington.edu/EVS/); ExAC = Exome Aggregation Consortium (http://exac.broadinstitute.org)